ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4337-9C>T

gnomAD frequency: 0.00004  dbSNP: rs201001403
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611307 SCV000726913 likely benign not specified 2018-01-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001186521 SCV001352977 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001460326 SCV001664193 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-09-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002586 SCV004832538 likely benign Marfan syndrome 2023-07-19 criteria provided, single submitter clinical testing

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